Previous HGNC Symbols for B3GALNT1 Gene

Previous GeneCards Identifiers for B3GALNT1 Gene

Summaries for B3GALNT1 Gene

Entrez Gene Summary for B3GALNT1 Gene

This gene is a member of the beta-1,3-galactosyltransferase (beta3GalT) gene family. This family encodes type II membrane-bound glycoproteins with diverse enzymatic functions using different donor substrates (UDP-galactose and UDP-N-acetylglucosamine) and different acceptor sugars (N-acetylglucosamine, galactose, N-acetylgalactosamine). The beta3GalT genes are distantly related to the Drosophila Brainiac gene and have the protein coding sequence contained in a single exon. The beta3GalT proteins also contain conserved sequences not found in the beta4GalT or alpha3GalT proteins. The carbohydrate chains synthesized by these enzymes are designated as type 1, whereas beta4GalT enzymes synthesize type 2 carbohydrate chains. The ratio of type 1:type 2 chains changes during embryogenesis. By sequence similarity, the beta3GalT genes fall into at least two groups: beta3GalT4 and 4 other beta3GalT genes (beta3GalT1-3, beta3GalT5). The encoded protein of this gene does not use N-acetylglucosamine as an acceptor sugar at all. [provided by RefSeq, Mar 2017]

GeneCards Summary for B3GALNT1 Gene

B3GALNT1 (Beta-1,3-N-Acetylgalactosaminyltransferase 1 (Globoside Blood Group)) is a Protein Coding gene.
Among its related pathways are Metabolism and Sphingolipid metabolism.
GO annotations related to this gene include transferase activity, transferring glycosyl groups and UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity.
An important paralog of this gene is B3GALT5.

Polymorphic Variants from UniProtKB/Swiss-Prot for B3GALNT1 Gene

Genetic variation in B3GALNT1 is responsible for the blood group P1PK system [MIM:111400]. Different combinations or absence of the P1PK antigens define 5 different phenotypes: P1, P2, P1(k), P2(k), and P. The P1(k) and P2(k) phenotypes are rare and characterized by lack of the P antigen.

A family of human beta3-galactosyltransferases. Characterization of four members of a UDP-galactose:beta-N-acetyl-glucosamine/beta-nacetyl-galactosamine beta-1,3-galactosyltransferase family.(PMID: 9582303)Amado M … Clausen H(The Journal of biological chemistry 1998)23460